Canonical Allele Identifier: CA753428851
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1260932301
gnomAD v3: 22-43928819-CA-C
gnomAD v4: 22-43928819-CA-C
MyVariant Identifiers: chr22:g.44324700del (hg19) chr22:g.43928820del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928820del , CM000684.2:g.43928820del GRCh38
NC_000022.10:g.44324700del , CM000684.1:g.44324700del GRCh37
NC_000022.9:g.42656033del NCBI36
NG_008631.1:g.10082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-4del MANE Select ENSP00000216180.3:n.421-4del
ENST00000216180.7:c.421-4del ENSP00000216180.3:n.421-4del
ENST00000406117.6:c.*53-4del ENSP00000384668.2:n.*53-4del
ENST00000423180.2:c.409-4del ENSP00000397987.2:n.409-4del
ENST00000478713.1:n.455-4del
NM_025225.2:c.421-4del NP_079501.2:n.421-4del
NM_025225.3:c.421-4del MANE Select NP_079501.2:n.421-4del
Search 100 bp 5'
Search 100 bp 3'